Common Variable Immunodeficiency

Common Variable Immunodeficiency 

Updated: 08/17/2020

© Jun Wang, MD, PhD

General features
  • Heterogeneous group with no clearly understood etiology
  • Hereditary or sporadic
  • No recognizable inheritance pattern
  • High risk of autoimmune, inflammatory and malignant disorders
  • Increased risk of gastric carcinoma, melanoma and EB virus associated B cell lymphoma
  • Diagnosis of exclusion
Clinical presentations
  • 5 distinct clinical phenotypes
No complications
Antoimmunity
Polyclonal lymphocytic infiltrate
Enteropathy
Lymphoid malignancy
  • Recurrent infections including diarrhea, pneumonia, otitis media, sinusitis etc
  • Splenomegaly and generalized lymphadenopathy
  • Autoimmune disorders
  • Skin manifestations: Alopecia, etc
Genetic abnormalities
  • Variable
  • Transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI)
  • Inducible co-stimulator of activated T cells (ICOS)
  • Others
Pathogenesis
  • Defects in immunoglobulin production due to either intrinsic B-cell abnormalities, or T-cell mediated activation of B cells
  • Defective immunoglobulin isotype switch
  • Impaired toll-like receptor signaling in B cells and dendritic cells
  • Decreased T cell proliferation
  • Reduced response to T cell receptor stimulations
Key Laboratory findings
  • Significantly reduced IgG
  • Low IgA and/or IgM
  • Poor or absent response to immunization
  • Usually normal CBC, urinalysis unless comorbidity occurs
Key morphological features
  • Loss of plasma cells in tissue
Diagnosis
  • Diagnosis of exclusion
  • Absence of any other defined immunodeficiency state
Managements
  • Immunoglobulin replacement
  • Treatments of infections
  • Treatments targeting organ involved


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